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Turcot syndrome(CMMRDS)

MedGen UID:
78553
Concept ID:
C0265325
Disease or Syndrome
Synonyms: Constitutional mismatch repair deficiency syndrome; Mismatch repair cancer syndrome
SNOMED CT: Turcot syndrome (61665008); Turcot's syndrome (61665008)
 
Related genes: PMS2, MSH2, MLH1, MSH6
 
Monarch Initiative: MONDO:0031219
OMIM®: 276300
OMIM® Phenotypic series: PS276300

Definition

An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis. [from NCI]

Professional guidelines

PubMed

Sümer-Turanlıgil NC, Cetin EÖ, Uyanıkgil Y
Childs Nerv Syst 2013 Mar;29(3):381-8. Epub 2013 Jan 6 doi: 10.1007/s00381-012-2014-3. PMID: 23292496
Juhn E, Khachemoune A
Am J Clin Dermatol 2010;11(2):117-22. doi: 10.2165/11311180-000000000-00000. PMID: 20141232
Hampel H, Peltomaki P
Clin Genet 2000 Aug;58(2):89-97. doi: 10.1034/j.1399-0004.2000.580201.x. PMID: 11005140

Recent clinical studies

Etiology

Harrold EC, Foote MB, Rousseau B, Walch H, Kemel Y, Richards AL, Keane F, Cercek A, Yaeger R, Rathkopf D, Segal NH, Patel Z, Maio A, Borio M, O'Reilly EM, Reidy D, Desai A, Janjigian YY, Murciano-Goroff YR, Carlo MI, Latham A, Liu YL, Walsh MF, Ilson D, Rosenberg JE, Markowitz AJ, Weiser MR, Rossi AM, Vanderbilt C, Mandelker D, Bandlamudi C, Offit K, Berger MF, Solit DB, Saltz L, Shia J, Diaz LA Jr, Stadler ZK
Nat Med 2023 Oct;29(10):2458-2463. Epub 2023 Oct 16 doi: 10.1038/s41591-023-02544-9. PMID: 37845474Free PMC Article
Mendiola M, Heredia-Soto V, Ruz-Caracuel I, Baillo A, Ramon-Patino JL, Escudero FJ, Miguel M, Pelaez-Garcia A, Hernandez A, Feliu J, Hardisson D, Redondo A
Int J Mol Sci 2023 Sep 23;24(19) doi: 10.3390/ijms241914468. PMID: 37833916Free PMC Article
Ratovomanana T, Nicolle R, Cohen R, Diehl A, Siret A, Letourneur Q, Buhard O, Perrier A, Guillerm E, Coulet F, Cervera P, Benusiglio P, Labrèche K, Colle R, Collura A, Despras E, Le Rouzic P, Renaud F, Cros J, Alentorn A, Touat M, Ayadi M, Bourgoin P, Prunier C, Tournigand C, Fouchardière C, Tougeron D, Jonchère V, Bennouna J, de Reynies A, Fléjou JF, Svrcek M, André T, Duval A
Ann Oncol 2023 Aug;34(8):703-713. Epub 2023 Jun 1 doi: 10.1016/j.annonc.2023.05.010. PMID: 37269904
André T, Shiu KK, Kim TW, Jensen BV, Jensen LH, Punt C, Smith D, Garcia-Carbonero R, Benavides M, Gibbs P, de la Fouchardiere C, Rivera F, Elez E, Bendell J, Le DT, Yoshino T, Van Cutsem E, Yang P, Farooqui MZH, Marinello P, Diaz LA Jr; KEYNOTE-177 Investigators
N Engl J Med 2020 Dec 3;383(23):2207-2218. doi: 10.1056/NEJMoa2017699. PMID: 33264544
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935

Diagnosis

Cheng S, Han Z, Dai D, Li F, Zhang X, Lu M, Lu Z, Wang X, Zhou J, Li J, Guo X, Song P, Qiu C, Shen W, Zhang Q, Zhu N, Wang X, Tan Y, Kou Y, Yin X, Shen L, Peng Z
Cell Rep Med 2024 Jan 16;5(1):101355. Epub 2024 Jan 8 doi: 10.1016/j.xcrm.2023.101355. PMID: 38194971Free PMC Article
Saillard C, Dubois R, Tchita O, Loiseau N, Garcia T, Adriansen A, Carpentier S, Reyre J, Enea D, von Loga K, Kamoun A, Rossat S, Wiscart C, Sefta M, Auffret M, Guillou L, Fouillet A, Kather JN, Svrcek M
Nat Commun 2023 Nov 6;14(1):6695. doi: 10.1038/s41467-023-42453-6. PMID: 37932267Free PMC Article
Harrold EC, Foote MB, Rousseau B, Walch H, Kemel Y, Richards AL, Keane F, Cercek A, Yaeger R, Rathkopf D, Segal NH, Patel Z, Maio A, Borio M, O'Reilly EM, Reidy D, Desai A, Janjigian YY, Murciano-Goroff YR, Carlo MI, Latham A, Liu YL, Walsh MF, Ilson D, Rosenberg JE, Markowitz AJ, Weiser MR, Rossi AM, Vanderbilt C, Mandelker D, Bandlamudi C, Offit K, Berger MF, Solit DB, Saltz L, Shia J, Diaz LA Jr, Stadler ZK
Nat Med 2023 Oct;29(10):2458-2463. Epub 2023 Oct 16 doi: 10.1038/s41591-023-02544-9. PMID: 37845474Free PMC Article
Yoshino T, Andre T, Kim TW, Yong WP, Shiu KK, Jensen BV, Jensen LH, Punt CJA, Smith D, Garcia-Carbonero R, Alcaide-Garcia J, Gibbs P, de la Fouchardiere C, Rivera F, Elez E, Le DT, Adachi N, Fogelman D, Marinello P, Diaz LA Jr
Cancer Sci 2023 Mar;114(3):1026-1036. Epub 2022 Dec 12 doi: 10.1111/cas.15650. PMID: 36369901Free PMC Article
Olave MC, Graham RP
Genes Chromosomes Cancer 2022 Jun;61(6):314-321. Epub 2021 Dec 9 doi: 10.1002/gcc.23015. PMID: 34837268

Therapy

Ratovomanana T, Nicolle R, Cohen R, Diehl A, Siret A, Letourneur Q, Buhard O, Perrier A, Guillerm E, Coulet F, Cervera P, Benusiglio P, Labrèche K, Colle R, Collura A, Despras E, Le Rouzic P, Renaud F, Cros J, Alentorn A, Touat M, Ayadi M, Bourgoin P, Prunier C, Tournigand C, Fouchardière C, Tougeron D, Jonchère V, Bennouna J, de Reynies A, Fléjou JF, Svrcek M, André T, Duval A
Ann Oncol 2023 Aug;34(8):703-713. Epub 2023 Jun 1 doi: 10.1016/j.annonc.2023.05.010. PMID: 37269904
Chow RD, Michaels T, Bellone S, Hartwich TMP, Bonazzoli E, Iwasaki A, Song E, Santin AD
Cancer Discov 2023 Feb 6;13(2):312-331. doi: 10.1158/2159-8290.CD-22-0686. PMID: 36301137Free PMC Article
André T, Shiu KK, Kim TW, Jensen BV, Jensen LH, Punt C, Smith D, Garcia-Carbonero R, Benavides M, Gibbs P, de la Fouchardiere C, Rivera F, Elez E, Bendell J, Le DT, Yoshino T, Van Cutsem E, Yang P, Farooqui MZH, Marinello P, Diaz LA Jr; KEYNOTE-177 Investigators
N Engl J Med 2020 Dec 3;383(23):2207-2218. doi: 10.1056/NEJMoa2017699. PMID: 33264544
Fojo AT
Semin Oncol 2019 Feb;46(1):1-2. doi: 10.1053/j.seminoncol.2019.01.003. PMID: 30846053
Ciombor KK, Goldberg RM
Drugs 2018 Feb;78(2):155-162. doi: 10.1007/s40265-018-0863-0. PMID: 29350327Free PMC Article

Prognosis

Cheng S, Han Z, Dai D, Li F, Zhang X, Lu M, Lu Z, Wang X, Zhou J, Li J, Guo X, Song P, Qiu C, Shen W, Zhang Q, Zhu N, Wang X, Tan Y, Kou Y, Yin X, Shen L, Peng Z
Cell Rep Med 2024 Jan 16;5(1):101355. Epub 2024 Jan 8 doi: 10.1016/j.xcrm.2023.101355. PMID: 38194971Free PMC Article
Yang W, Zheng H, Lv W, Zhu Y
Int J Colorectal Dis 2023 Nov 14;38(1):266. doi: 10.1007/s00384-023-04553-z. PMID: 37962772
Wu Y, Zhuang J, Qu Z, Yang X, Han S
Front Immunol 2023;14:1259461. Epub 2023 Oct 9 doi: 10.3389/fimmu.2023.1259461. PMID: 37876934Free PMC Article
Ratovomanana T, Nicolle R, Cohen R, Diehl A, Siret A, Letourneur Q, Buhard O, Perrier A, Guillerm E, Coulet F, Cervera P, Benusiglio P, Labrèche K, Colle R, Collura A, Despras E, Le Rouzic P, Renaud F, Cros J, Alentorn A, Touat M, Ayadi M, Bourgoin P, Prunier C, Tournigand C, Fouchardière C, Tougeron D, Jonchère V, Bennouna J, de Reynies A, Fléjou JF, Svrcek M, André T, Duval A
Ann Oncol 2023 Aug;34(8):703-713. Epub 2023 Jun 1 doi: 10.1016/j.annonc.2023.05.010. PMID: 37269904
Olave MC, Graham RP
Genes Chromosomes Cancer 2022 Jun;61(6):314-321. Epub 2021 Dec 9 doi: 10.1002/gcc.23015. PMID: 34837268

Clinical prediction guides

Cheng S, Han Z, Dai D, Li F, Zhang X, Lu M, Lu Z, Wang X, Zhou J, Li J, Guo X, Song P, Qiu C, Shen W, Zhang Q, Zhu N, Wang X, Tan Y, Kou Y, Yin X, Shen L, Peng Z
Cell Rep Med 2024 Jan 16;5(1):101355. Epub 2024 Jan 8 doi: 10.1016/j.xcrm.2023.101355. PMID: 38194971Free PMC Article
Harrold EC, Foote MB, Rousseau B, Walch H, Kemel Y, Richards AL, Keane F, Cercek A, Yaeger R, Rathkopf D, Segal NH, Patel Z, Maio A, Borio M, O'Reilly EM, Reidy D, Desai A, Janjigian YY, Murciano-Goroff YR, Carlo MI, Latham A, Liu YL, Walsh MF, Ilson D, Rosenberg JE, Markowitz AJ, Weiser MR, Rossi AM, Vanderbilt C, Mandelker D, Bandlamudi C, Offit K, Berger MF, Solit DB, Saltz L, Shia J, Diaz LA Jr, Stadler ZK
Nat Med 2023 Oct;29(10):2458-2463. Epub 2023 Oct 16 doi: 10.1038/s41591-023-02544-9. PMID: 37845474Free PMC Article
Thomas EM, Wright JA, Blake SJ, Page AJ, Worthley DL, Woods SL
Br J Cancer 2023 Oct;129(9):1442-1450. Epub 2023 Aug 10 doi: 10.1038/s41416-023-02392-x. PMID: 37563222Free PMC Article
Ratovomanana T, Nicolle R, Cohen R, Diehl A, Siret A, Letourneur Q, Buhard O, Perrier A, Guillerm E, Coulet F, Cervera P, Benusiglio P, Labrèche K, Colle R, Collura A, Despras E, Le Rouzic P, Renaud F, Cros J, Alentorn A, Touat M, Ayadi M, Bourgoin P, Prunier C, Tournigand C, Fouchardière C, Tougeron D, Jonchère V, Bennouna J, de Reynies A, Fléjou JF, Svrcek M, André T, Duval A
Ann Oncol 2023 Aug;34(8):703-713. Epub 2023 Jun 1 doi: 10.1016/j.annonc.2023.05.010. PMID: 37269904
André T, Shiu KK, Kim TW, Jensen BV, Jensen LH, Punt C, Smith D, Garcia-Carbonero R, Benavides M, Gibbs P, de la Fouchardiere C, Rivera F, Elez E, Bendell J, Le DT, Yoshino T, Van Cutsem E, Yang P, Farooqui MZH, Marinello P, Diaz LA Jr; KEYNOTE-177 Investigators
N Engl J Med 2020 Dec 3;383(23):2207-2218. doi: 10.1056/NEJMoa2017699. PMID: 33264544

Recent systematic reviews

Mitric C, Salman L, Abrahamyan L, Kim SR, Pechlivanoglou P, Chan KKW, Gien LT, Ferguson SE
Gynecol Oncol 2023 Mar;170:133-142. Epub 2023 Jan 20 doi: 10.1016/j.ygyno.2022.12.008. PMID: 36682091
Eikenboom EL, Moen S, van Leeuwen L, Geurts-Giele WRR, Tops CMJ, van Ham TJ, Dinjens WNM, Dubbink HJ, Spaander MCW, Wagner A
HGG Adv 2023 Jan 12;4(1):100167. Epub 2022 Dec 14 doi: 10.1016/j.xhgg.2022.100167. PMID: 36624813Free PMC Article
Aiyer KTS, Doeleman T, Ryan NA, Nielsen M, Crosbie EJ, Smit VTHBM, Morreau H, Goeman JJ, Bosse T
Mod Pathol 2022 Dec;35(12):1775-1783. Epub 2022 Sep 14 doi: 10.1038/s41379-022-01149-w. PMID: 36104536Free PMC Article
Baxter NN, Kennedy EB, Bergsland E, Berlin J, George TJ, Gill S, Gold PJ, Hantel A, Jones L, Lieu C, Mahmoud N, Morris AM, Ruiz-Garcia E, You YN, Meyerhardt JA
J Clin Oncol 2022 Mar 10;40(8):892-910. Epub 2021 Dec 22 doi: 10.1200/JCO.21.02538. PMID: 34936379
Nie RC, Chen GM, Yuan SQ, Kim JW, Zhou J, Nie M, Feng CY, Chen YB, Chen S, Zhou ZW, Wang Y, Li YF
Ann Surg Oncol 2022 Apr;29(4):2324-2331. Epub 2021 Nov 18 doi: 10.1245/s10434-021-11050-6. PMID: 34796431

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